 Dr Asma Ali Khan received her doctoral degree (PhD) from University of Lorraine, France in Life and Health Sciences with specialization in Human Molecular Genetics. She joined the Centre of Excellence in Molecular Biology in 2013 as Assistant Professor in Genetic Diseases group. Her research focuses on the strategies to identify novel genetic mutations in autosomal recessive genetic disorders such as Hearing Impairment and Intellectual Disability in consanguineous families in Pakistan. This research work has so far produced publications in international peer reviewed journals.
Dr Khan’s thesis research work was on extended mutational spectrum of IL1RAPL1 and MBD5 genes which were characterized by using aCGH microarray, qPCR, FISH, Western Blotting and Sanger sequencing techniques. At present, she is working on the molecular and genetic characterization of syndromic and non-syndromic hereditary disorders. She is also engaged in phenotypic characterization of families with Perrault syndrome and rare disorders with hearing impairment. Her expertise includes the Whole Exome Sequencing data analysis of families segregating autosomal recessive genetic diseases through the latest bioinformatics tools.
Dr Khan has completed an NRPU project #2934 “Identification and Characterization of Genes Responsible for Hearing Impairment In Pakistani Population” worth 8.4M PKR. She is also an HEC approved supervisor and supervised 14 M.Phil and 4 Ph.D students so far.
Selected Publications: |
1. |
Faridi R, Rea A, Fenollar-Ferrer C, O’Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2. PMID: 34338890 |
2. |
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. |
3. |
Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D.L., Song, Y., van Beusekom, E., Khan, A.A., Tomas-Roca, L., Rashid, M., Zahoor, M.Y., Wissink-Lindhout, W.M., Basra, M.A., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J.A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M.Z., Grozeva, D., Carss, K., Raymond, F.L., O’Connor, T.D., Riazuddin, S.A., Khan, S.N., Ahmed, Z.M., de Brouwer, A.P., and van Bokhoven, H. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. |
4. |
Rehman, A.U., Santos-Cortez, L., Morell, R.J., Drummond, M.C., Ito, T., Lee, K., Khan, A.A., Basra, M.A., Wasif, N., Ayub, M., Ali, R.A., Raza, S.; University of Washington Center for Mendelian Genomics, Nickerson, D.A., Shendure, J., Bamshad, M., Riazuddin, S., Billington, N., Khan, S.N., Friedman, P.L., Griffith, A.J., Ahmad, W., Riazuddin, S., Leal, S.M., Friedman, T.B. Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. The American Journal of Human Genetics. 2014 Jan 2; 94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004. |
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